The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] See more...

Aliases for BRIP1 Gene

Aliases for BRIP1 Gene

  • BRCA1 Interacting Helicase 1 2 3
  • BRCA1 Interacting Protein C-Terminal Helicase 1 2 3 5
  • BACH1 2 3 4
  • FANCJ 2 3 4
  • BRCA1-Associated C-Terminal Helicase 1 3 4
  • BRCA1/BRCA2-Associated Helicase 1 2 3
  • ATP-Dependent RNA Helicase BRIP1 3 4
  • Fanconi Anemia Group J Protein 3 4
  • FANCJ Helicase 2 3
  • OF 2 3
  • BRCA1-Interacting Protein C-Terminal Helicase 1 4
  • BRCA1-Binding Helicase-Like Protein BACH1 3
  • BRCA1-Associated C-Terminal Helicase 2
  • BRCA1 Interacting Protein 1 2
  • BRCA1-Interacting Protein 1 4
  • Protein FACJ 4
  • EC 3.6.4.13 4
  • EC 3.6.1 50
  • BRIP1 5

External Ids for BRIP1 Gene

Previous GeneCards Identifiers for BRIP1 Gene

  • GC17M059523
  • GC17M062245
  • GC17M060101
  • GC17M060234
  • GC17M057114
  • GC17M059759
  • GC17M055122

Summaries for BRIP1 Gene

Entrez Gene Summary for BRIP1 Gene

  • The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]

GeneCards Summary for BRIP1 Gene

BRIP1 (BRCA1 Interacting Helicase 1) is a Protein Coding gene. Diseases associated with BRIP1 include Fanconi Anemia, Complementation Group J and Breast Cancer. Among its related pathways are DNA Double-Strand Break Repair and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and 4 iron, 4 sulfur cluster binding. An important paralog of this gene is RTEL1.

UniProtKB/Swiss-Prot Summary for BRIP1 Gene

  • DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1.

Gene Wiki entry for BRIP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BRIP1 Gene

Genomics for BRIP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BRIP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J061861 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 258.2 +1.2 1169 3.5 SP1 MYC ZNF600 SSRP1 KLF9 POLR2A CEBPA ZBTB10 YY1 MXD4 BRIP1 HSALNG0117914 lnc-TBX4-3 NACA2
GH17J062062 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 5.9 -200.1 -200111 4.9 LARP7 BCLAF1 SP1 ZNF207 ZNF654 MYC ZNF600 SSRP1 POLR2A ZNF10 MED13 HSALNG0117931 lnc-EFCAB3-7 INTS2 TLK2 BRIP1 NACA2 HSALNG0117929
GH17J061810 Enhancer 1.1 UCNEbase Ensembl ENCODE 11.6 +53.9 53920 1.2 CEBPA CEBPB MAFF ZNF316 NFE2 PRDM6 IRF9 ETV1 MAFK ATF4 BRIP1 HSALNG0117909 HSALNG0117912 NACA2
GH17J061815 Enhancer 1 VISTA Ensembl ENCODE 11.7 +47.5 47541 1.6 JUND SPI1 JUNB NFXL1 FOS BCLAF1 BRIP1 HSALNG0117909 HSALNG0117912 NACA2
GH17J061805 Enhancer 0.7 Ensembl ENCODE 12.5 +58.2 58219 1.8 JUND ZBTB33 JUNB MEIS2 PKNOX1 MTA2 SOX6 EP300 RUNX3 BCLAF1 BRIP1 HSALNG0117909 HSALNG0117912 NACA2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BRIP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BRIP1

Top Transcription factor binding sites by QIAGEN in the BRIP1 gene promoter:
  • ATF-2
  • Cdc5
  • FOXJ2
  • FOXJ2 (long isoform)
  • HNF-1
  • HNF-1A
  • RP58
  • Sox9

Genomic Locations for BRIP1 Gene

Latest Assembly
chr17:61,679,139-61,864,120
(GRCh38/hg38)
Size:
184,982 bases
Orientation:
Minus strand

Previous Assembly
chr17:59,756,500-59,940,889
(GRCh37/hg19 by Entrez Gene)
Size:
184,390 bases
Orientation:
Minus strand

chr17:59,758,627-59,940,882
(GRCh37/hg19 by Ensembl)
Size:
182,256 bases
Orientation:
Minus strand

Genomic View for BRIP1 Gene

Genes around BRIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRIP1 Gene

Proteins for BRIP1 Gene

  • Protein details for BRIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BX63-FANCJ_HUMAN
    Recommended name:
    Fanconi anemia group J protein
    Protein Accession:
    Q9BX63
    Secondary Accessions:
    • A0A024QZ45
    • Q3MJE2
    • Q8NCI5

    Protein attributes for BRIP1 Gene

    Size:
    1249 amino acids
    Molecular mass:
    140867 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Binds directly to the BRCT domains of BRCA1 (PubMed:15125843). Interacts with the CIA complex components CIAO1, CIAO2B and MMS19 (PubMed:23585563).
    SequenceCaution:
    • Sequence=BAC11156.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BRIP1 Gene

    Alternative splice isoforms for BRIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BRIP1 Gene

Selected DME Specific Peptides for BRIP1 Gene

Q9BX63:
  • LDEAHNI
  • PYNYLLD

Post-translational modifications for BRIP1 Gene

  • Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated.
  • Acetylation at Lys-1249 facilitates DNA end processing required for repair and checkpoint signaling.
  • Ubiquitination at Lys862
  • Modification sites at PhosphoSitePlus

Domains & Families for BRIP1 Gene

Gene Families for BRIP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for BRIP1 Gene

InterPro:
Blocks:
  • ATP-dependent helicase, DEAH-box
  • Helicase c2
  • DEAD_2

Suggested Antigen Peptide Sequences for BRIP1 Gene

GenScript: Design optimal peptide antigens:
  • BRCA1-interacting protein C-terminal helicase 1 (FANCJ_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BX63

UniProtKB/Swiss-Prot:

FANCJ_HUMAN :
  • 4Fe-4S iron-sulfur-binding is required for helicase activity.
  • Belongs to the DEAD box helicase family. DEAH subfamily.
Domain:
  • 4Fe-4S iron-sulfur-binding is required for helicase activity.
Family:
  • Belongs to the DEAD box helicase family. DEAH subfamily.
genes like me logo Genes that share domains with BRIP1: view

Function for BRIP1 Gene

Molecular function for BRIP1 Gene

UniProtKB/Swiss-Prot Function:
DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13;.

Enzyme Numbers (IUBMB) for BRIP1 Gene

Phenotypes From GWAS Catalog for BRIP1 Gene

Gene Ontology (GO) - Molecular Function for BRIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding NAS 15878853
GO:0003678 DNA helicase activity IBA,NAS 11301010
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with BRIP1: view
genes like me logo Genes that share phenotypes with BRIP1: view

Human Phenotype Ontology for BRIP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Transcription Factor Targets for BRIP1 Gene

Selected GeneGlobe predicted Target genes for BRIP1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BRIP1

No data available for Animal Models and HOMER Transcription for BRIP1 Gene

Localization for BRIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRIP1 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BRIP1 gene
Compartment Confidence
nucleus 5
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BRIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,NAS 11301010
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 23585563
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with BRIP1: view

Pathways & Interactions for BRIP1 Gene

genes like me logo Genes that share pathways with BRIP1: view

Pathways by source for BRIP1 Gene

1 GeneGo (Thomson Reuters) pathway for BRIP1 Gene
  • DNA damage_Role of Brca1 and Brca2 in DNA repair
1 Cell Signaling Technology pathway for BRIP1 Gene

SIGNOR curated interactions for BRIP1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for BRIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint NAS 14576433
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006260 DNA replication TAS --
GO:0006281 DNA repair IEA --
GO:0006289 nucleotide-excision repair IBA 21873635
genes like me logo Genes that share ontologies with BRIP1: view

Drugs & Compounds for BRIP1 Gene

(6) Drugs for BRIP1 Gene - From: ClinicalTrials and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rucaparib Approved, Investigational Pharma PARP inhibitor, PARP Inhibitors, Other 64
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0
Cola Pharma 2613

(1) Additional Compounds for BRIP1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with BRIP1: view

Transcripts for BRIP1 Gene

mRNA/cDNA for BRIP1 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BRIP1

Alternative Splicing Database (ASD) splice patterns (SP) for BRIP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21
SP1: - -
SP2: -
SP3:
SP4:
SP5:

Relevant External Links for BRIP1 Gene

GeneLoc Exon Structure for
BRIP1

Expression for BRIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BRIP1 Gene

mRNA differential expression in normal tissues according to GTEx for BRIP1 Gene

This gene is overexpressed in Testis (x7.5).

Protein differential expression in normal tissues from HIPED for BRIP1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (65.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BRIP1 Gene



Protein tissue co-expression partners for BRIP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BRIP1

SOURCE GeneReport for Unigene cluster for BRIP1 Gene:

Hs.128903

mRNA Expression by UniProt/SwissProt for BRIP1 Gene:

Q9BX63-FANCJ_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels in testis.

Phenotype-based relationships between genes and organs from Gene ORGANizer for BRIP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • finger
  • forearm
  • hand
  • radius
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with BRIP1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Evidence on tissue expression from TISSUES for BRIP1 Gene

Orthologs for BRIP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BRIP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BRIP1 29 30
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BRIP1 29 30
  • 88.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BRIP1 29 30
  • 87.39 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Brip1 29 16 30
  • 80.73 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Brip1 29
  • 80.08 (n)
Oppossum
(Monodelphis domestica)
Mammalia BRIP1 30
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BRIP1 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BRIP1 29 30
  • 64.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BRIP1 30
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia brip1 29
  • 61.68 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68622 29
Zebrafish
(Danio rerio)
Actinopterygii brip1 29 30
  • 62.34 (n)
OneToOne
Dr.15442 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG4078 31
  • 39 (a)
Worm
(Caenorhabditis elegans)
Secernentea dog-1 30 31
  • 25 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHL1 30
  • 23 (a)
OneToMany
Species where no ortholog for BRIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for BRIP1 Gene

ENSEMBL:
Gene Tree for BRIP1 (if available)
TreeFam:
Gene Tree for BRIP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BRIP1: view image
Alliance of Genome Resources:
Additional Orthologs for BRIP1

Paralogs for BRIP1 Gene

Paralogs for BRIP1 Gene

(3) SIMAP similar genes for BRIP1 Gene using alignment to 5 proteins:

  • FANCJ_HUMAN
  • J3KS24_HUMAN
  • J3QKX0_HUMAN
  • J3QQP5_HUMAN
  • J3QSE8_HUMAN
genes like me logo Genes that share paralogs with BRIP1: view

Variants for BRIP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BRIP1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1000099 Uncertain Significance: Fanconi anemia, complementation group J; Familial cancer of breast 61,849,173(-) G/C
NM_032043.3(BRIP1):c.463C>G (p.Gln155Glu)
MISSENSE
1000494 Uncertain Significance: Fanconi anemia, complementation group J; Familial cancer of breast 61,683,389(-) AT/A
NM_032043.3(BRIP1):c.3656del (p.Asn1219fs)
FRAMESHIFT
1000644 Uncertain Significance: Fanconi anemia, complementation group J; Familial cancer of breast 61,685,956(-) GATGACTTGCTGCTTC
NM_032043.3(BRIP1):c.2764_2784del (p.Leu923_Leu929del)
INFRAME_DELETION
1001101 Uncertain Significance: Fanconi anemia, complementation group J; Familial cancer of breast 61,685,872(-) G/C
NM_032043.3(BRIP1):c.2869C>G (p.Pro957Ala)
MISSENSE
1001276 Uncertain Significance: Fanconi anemia, complementation group J; Familial cancer of breast 61,780,341(-) G/A
NM_032043.3(BRIP1):c.1855C>T (p.Pro619Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BRIP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BRIP1 Gene

Variant ID Type Subtype PubMed ID
dgv5740n54 CNV loss 21841781
dgv579e214 CNV loss 21293372
esv2489612 CNV deletion 19546169
esv2576756 CNV deletion 19546169
esv3302702 CNV tandem duplication 20981092
esv3438776 CNV insertion 20981092
esv3640953 CNV gain 21293372
esv7670 CNV gain 19470904
esv9358 CNV gain 19470904
nsv1071396 CNV deletion 25765185
nsv1111148 CNV tandem duplication 24896259
nsv1134664 CNV deletion 24896259
nsv575843 CNV loss 21841781

Variation tolerance for BRIP1 Gene

Residual Variation Intolerance Score: 8.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.73; 46.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BRIP1 Gene

Human Gene Mutation Database (HGMD)
BRIP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRIP1
Leiden Open Variation Database (LOVD)
BRIP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRIP1 Gene

Disorders for BRIP1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for BRIP1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
fanconi anemia, complementation group j
  • fancj
breast cancer
  • breast cancer, familial
fanconi anemia, complementation group a
  • fanca
tracheoesophageal fistula with or without esophageal atresia
  • esophageal atresia with or without tracheoesophageal fistula
hereditary breast ovarian cancer syndrome
  • brca1- and brca2-associated hereditary breast and ovarian cancer
- elite association - COSMIC cancer census association via MalaCards
Search BRIP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FANCJ_HUMAN
  • Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269 PubMed:11301010, ECO:0000269 PubMed:14983014}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • Fanconi anemia complementation group J (FANCJ) [MIM:609054]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269 PubMed:16116423, ECO:0000269 PubMed:16116424, ECO:0000269 PubMed:20639400}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for BRIP1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BRIP1: view

No data available for Genatlas for BRIP1 Gene

Publications for BRIP1 Gene

  1. BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. (PMID: 16153896) Litman R … Cantor SB (Cancer cell 2005) 3 4 22 72
  2. The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. (PMID: 16116424) Levran O … Auerbach AD (Nature genetics 2005) 3 4 22 72
  3. Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling. (PMID: 15125843) Shiozaki EN … Shi Y (Molecular cell 2004) 3 4 22 72
  4. The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations. (PMID: 14983014) Cantor S … Livingston DM (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 22 72
  5. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. (PMID: 11301010) Cantor SB … Livingston DM (Cell 2001) 2 3 4 22

Products for BRIP1 Gene

Sources for BRIP1 Gene